Primary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent

This case report is of the index case of bilateral transient patellar dislocation in a patient with primary hypertrophic osteoarthropathy. Primary hypertrophic osteoarthropathy is a rare complex disorder with variable presentation and thus frequently delayed diagnosis. Notably this disease has multiple skeletal manifestations and, of relevance to this case, a proportion of patients suffer from osteitis. Our patient had serial imaging of the knee joints demonstrating osteitis and associated alteration of the femoral trochlea morphology, predisposing to bilateral transient lateral patellar dislocation. The patient’s clinical presentation, diagnosis and management are discussed. Classification of the disease and its diagnostic parameters are summarised along with key imaging features amongst various imaging modalities.

Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy in Female Patients: A Case Report and Literature Review

This paper reports a case of chronic enteropathy associated with the SLCO2A1 gene (CEAS) combined with primary hypertrophic osteoarthropathy (PHO). The patient was a 25-year-old woman with a normal onset of puberty who was admitted to our hospital four times due to intractable oedema and anaemia. She had a history of hyperhidrosis since childhood, and her parents were close relatives (cousins). Enteroscopy revealed stenotic ulcers on the ileocecal valve and the terminal ileum. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) showed segmental thickening of the ileum and terminal intestinal wall and centripetal narrowing of some intestinal cavities. MRE also showed a marked "comb sign" in the adjacent mesentery, and X-rays of both lower limbs showed thickening of the tibiofibular cortex. The CEAS pathogenic genes were screened by whole exome sequencing, and a homozygous missense mutation of p. Gly222Asp (c.664G>A) was found in the fifth exon of the SLCO2A1 gene, which was verified by Sanger sequencing. In conclusion, the patient was identified as CEAS with PHO associated with a SLCO2A1 gene mutation, but the patient is a young woman, which has rarely been reported in previous studies. In addition to reporting her case, the relevant literature was reviewed to improve clinicians' understanding of diseases associated with the SLCO2A1 gene.

Pachydermoperiostosis (PDP): A Case Report

Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy which accounts for 5% of all cases of the disorder. It is a rare hereditary disorder that is associated with digital clubbing, polyarthritis, cutis verticis gyrata, Seborrhea, eyelid ptosis, and hyperhidrosis. In this case report, we discussed a case of an incomplete form of primary hypertrophic osteoarthropathy characterised by evidence of bone abnormalities without pachydermia. Keywords: Pachydermoperiostosis, hypertrophic osteoarthropathy, periostosis.

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia. The underlying cause for the pathogenesis of this disease is a defect in prostaglandin E2 (PGE2) degradation, caused by mutations in HPGD or SLCO2A1. In this study, we describe the clinical characteristics, SLCO2A1 mutations, and bone metabolic markers of a PHO pedigree from a Chinese consanguineous twin family. Methods. Whole blood and urine samples were collected from all the family members. All the exons and exon-intron boundaries of the HPGD and SLCO2A1 genes were amplified using polymerase chain reaction (PCR) and sequenced. The biomarkers of mineral and bone metabolism, including calcium, phosphorus, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), bone Gla-protein (BGP), C-terminal telopeptide of type I collagen (β-CTX), and urinary calcium/creatinine ratio (Uca/Ucr) were detected. Results. A homozygous (nonsense) mutation in the SLCO2A1 gene (c.1807C >T/p.R603 ∗ ) was detected in the proband. Five heterozygous carriers were also identified among his relatives, including his twin brother. The serum BGP (225.5 ng/ml), β-CTX (4112 pg/ml), and Uca/Ucr (0.63) levels were significantly elevated, while the 25(OH)D (37.1 nmol/L) level was reduced in the proband. The proband’s twin brother displayed increased levels of β-CTX (901 pg/ml) and insufficiency of 25(OH)D (67.29 nmol/L), while the other heterozygous carriers only displayed 25(OH)D insufficiency. Conclusion. The patients with PHO displayed an active state of bone reconstruction. There may be a lack of vitamin D, accompanied by an increase in BGP and β-CTX levels. Heterozygous mutations of SLCO2A1 might lead to mild PHO.

Primary hypertrophic osteoarthropathy

The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence. Differential diagnosis should be carried out with secondary hypertrophic osteoarthropathy, which occurs in 90% of cases and is associated with malignant neoplasms, rheumatic diseases and other diseases. X-ray signs are of great importance to clarify the localization, extent and nature of bone lesions. There is no specific treatment for the disease.